Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	149461
Gene name	Claudin 19
Gene symbol	CLDN19
Synonyms (NCBI Gene)	HOMG5
Chromosome	1
Chromosome location	1p34.2
Summary	The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia rena

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203979	C>T	Pathogenic	Missense variant, coding sequence variant
rs118203980	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs118203981	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs145591298	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1557551678	C>A	Pathogenic	Coding sequence variant, missense variant

151

Show/Hide all (151)

miRTarBase ID	miRNA	Experiments	Reference
MIRT518276	hsa-miR-4438	PAR-CLIP	23446348
MIRT518277	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT518275	hsa-miR-4537	PAR-CLIP	23446348
MIRT518274	hsa-miR-5095	PAR-CLIP	23446348
MIRT518273	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518272	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518276	hsa-miR-4438	PAR-CLIP	23446348
MIRT518277	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT518275	hsa-miR-4537	PAR-CLIP	23446348
MIRT518274	hsa-miR-5095	PAR-CLIP	23446348
MIRT518273	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518272	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895230	hsa-miR-1909	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895233	hsa-miR-4311	CLIP-seq
MIRT895234	hsa-miR-4330	CLIP-seq
MIRT895235	hsa-miR-4487	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895239	hsa-miR-581	CLIP-seq
MIRT895240	hsa-miR-636	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895242	hsa-miR-1193	CLIP-seq
MIRT895243	hsa-miR-1207-5p	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895244	hsa-miR-2114	CLIP-seq
MIRT895245	hsa-miR-2392	CLIP-seq
MIRT895246	hsa-miR-299-5p	CLIP-seq
MIRT895247	hsa-miR-3189-3p	CLIP-seq
MIRT895248	hsa-miR-3194-3p	CLIP-seq
MIRT895249	hsa-miR-3200-3p	CLIP-seq
MIRT895250	hsa-miR-3650	CLIP-seq
MIRT895251	hsa-miR-3652	CLIP-seq
MIRT895252	hsa-miR-4256	CLIP-seq
MIRT895253	hsa-miR-4260	CLIP-seq
MIRT895254	hsa-miR-431	CLIP-seq
MIRT895255	hsa-miR-4430	CLIP-seq
MIRT895256	hsa-miR-4638-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT895257	hsa-miR-4763-3p	CLIP-seq
MIRT895258	hsa-miR-485-5p	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895259	hsa-miR-629	CLIP-seq
MIRT895260	hsa-miR-665	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895261	hsa-miR-924	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1965454	hsa-miR-3187-3p	CLIP-seq
MIRT1965455	hsa-miR-326	CLIP-seq
MIRT1965456	hsa-miR-330-5p	CLIP-seq
MIRT1965457	hsa-miR-4252	CLIP-seq
MIRT1965458	hsa-miR-4266	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT1965459	hsa-miR-4435	CLIP-seq
MIRT1965460	hsa-miR-4695-5p	CLIP-seq
MIRT1965461	hsa-miR-4701-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT1965462	hsa-miR-4779	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT1965464	hsa-miR-516b	CLIP-seq
MIRT1965465	hsa-miR-548ag	CLIP-seq
MIRT1965466	hsa-miR-548ai	CLIP-seq
MIRT1965467	hsa-miR-548s	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT1965468	hsa-miR-588	CLIP-seq
MIRT1965469	hsa-miR-593	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT2201402	hsa-miR-1273d	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1965455	hsa-miR-326	CLIP-seq
MIRT1965456	hsa-miR-330-5p	CLIP-seq
MIRT2201403	hsa-miR-3620	CLIP-seq
MIRT2201404	hsa-miR-3690	CLIP-seq
MIRT2201405	hsa-miR-380	CLIP-seq
MIRT1965458	hsa-miR-4266	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT2201406	hsa-miR-4308	CLIP-seq
MIRT2201407	hsa-miR-4495	CLIP-seq
MIRT2201408	hsa-miR-4535	CLIP-seq
MIRT1965460	hsa-miR-4695-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT2201409	hsa-miR-4735-5p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT2201410	hsa-miR-4772-3p	CLIP-seq
MIRT2201411	hsa-miR-4775	CLIP-seq
MIRT1965462	hsa-miR-4779	CLIP-seq
MIRT2201412	hsa-miR-492	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT1965464	hsa-miR-516b	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT2201413	hsa-miR-590-3p	CLIP-seq
MIRT1965469	hsa-miR-593	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT2504407	hsa-miR-125a-5p	CLIP-seq
MIRT2504408	hsa-miR-125b	CLIP-seq
MIRT2504409	hsa-miR-1288	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT2504410	hsa-miR-3144-5p	CLIP-seq
MIRT2504411	hsa-miR-3191	CLIP-seq
MIRT2504412	hsa-miR-3199	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT2504413	hsa-miR-4283	CLIP-seq
MIRT2504414	hsa-miR-4292	CLIP-seq
MIRT2504415	hsa-miR-4319	CLIP-seq
MIRT2504416	hsa-miR-4652-5p	CLIP-seq
MIRT2504417	hsa-miR-4667-5p	CLIP-seq
MIRT2504418	hsa-miR-4700-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT2504419	hsa-miR-4725-5p	CLIP-seq
MIRT2504420	hsa-miR-4732-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT2504421	hsa-miR-504	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT2504422	hsa-miR-670	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003406	Process	Retinal pigment epithelium development	IMP	27593915, 30937396
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	18188451, 19706394, 25910212, 28028216, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	16427635
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007155	Process	Cell adhesion	IBA
GO:0007601	Process	Visual perception	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	27593915
GO:0010628	Process	Positive regulation of gene expression	IMP	27593915
GO:0010629	Process	Negative regulation of gene expression	IMP	27593915
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16427635
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	27593915
GO:0030054	Component	Cell junction	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	27593915
GO:0033010	Component	Paranodal junction	IEA
GO:0034329	Process	Cell junction assembly	IMP	27593915
GO:0042802	Function	Identical protein binding	IDA	28028216
GO:0042802	Function	Identical protein binding	ISS
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0043296	Component	Apical junction complex	IDA	16427635
GO:0043296	Component	Apical junction complex	IMP	27593915
GO:0043297	Process	Apical junction assembly	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	27593915
GO:0070160	Component	Tight junction	IDA	18188451
GO:0070161	Component	Anchoring junction	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	ISS
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0097453	Component	Mesaxon	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IDA	27593915
GO:0120193	Process	Tight junction organization	IEA
GO:0150111	Process	Regulation of transepithelial transport	IMP	27593915
GO:0160184	Process	Paracellular transport	IDA	18188451
GO:0160187	Function	Paracellular tight junction channel activity	IDA	18188451

MIM	HGNC	e!Ensembl
610036	2040	ENSG00000164007

Q8N6F1

Protein name

Claudin-19

Protein function

Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:1818845

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	4 → 182	PMP-22/EMP/MP20/Claudin family	Family

Sequence

MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTG
QVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAI
AGGALFILAGLCTLTAVSWYATLVTQEFFNPSTPVNARYEFGPALFVGWASAGLAVLGGS
FLCCTCPEPERPNSSPQPYRPGPSAAAREPVVKLPASAKGPLGV

Sequence length

224

Interactions

View interactions

	KEGG
	Virion - Hepatitis viruses Cell adhesion molecules Tight junction Leukocyte transendothelial migration Pathogenic Escherichia coli infection Hepatitis C

121

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CLDN19-related disorder	Likely pathogenic; Pathogenic	rs118203979	RCV003924792
Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic; Pathogenic	rs553635114, rs2124044159, rs118203979, rs118203980, rs118203981, rs973088841, rs780082160, rs2524372801, rs1303732063, rs145591298, rs1557551678, rs1651357824	RCV001808177 RCV001808297 RCV000001426 RCV000001427 RCV000001428 RCV002251295 RCV005930669 RCV003226607 RCV003991999 RCV004577254 RCV000662264 RCV000662265 RCV000678679 RCV001281174

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Nephrocalcinosis	Conflicting classifications of pathogenicity	rs145591298	RCV000662320
Nephrolithiasis	Conflicting classifications of pathogenicity	rs145591298	RCV000662320
Nonpapillary renal cell carcinoma	Benign	rs9660973	RCV005891705
Ovarian serous cystadenocarcinoma	Benign	rs114944537, rs9660973	RCV005891704 RCV005891707
Renal Hypomagnesemia, Recessive	Uncertain significance; Likely benign	rs1057515528, rs1057515456, rs138777333	RCV000267508 RCV000392737 RCV000322683
Sarcoma	Benign	rs9660973	RCV005891706

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	21030577
Anisocoria	Associate	25366522
Astigmatism	Associate	25366522
Birdshot Chorioretinopathy	Associate	25366522
Breast Neoplasms	Inhibit	33714203
Channelopathies	Associate	21030577
Chronic Kidney Disease Mineral and Bone Disorder	Associate	22422540
Epileptic Syndromes	Associate	25317625
Eye Abnormalities	Associate	22422540
Eye Diseases	Associate	25366522
Eye Infections	Associate	25317625
Glycosuria Renal	Associate	21030577, 25317625
Hypercalciuria	Associate	21030577, 22422540, 23301036, 25317625, 25366522
Hypertensive Retinopathy	Associate	25317625
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	21030577, 26446843
Hypomagnesemia primary	Associate	21030577, 22422540, 23301036, 25317625, 25366522, 27853022, 30305086, 32869508
Kidney Diseases	Associate	23301036, 25366522, 26446843
Kidney Failure Chronic	Associate	21030577, 22422540, 25317625, 25366522
Lupus Nephritis	Associate	26110394
Muscle Weakness	Associate	21030577
Myopia	Associate	23301036, 25366522
Neoplasms	Associate	22193974
Nephrocalcinosis	Associate	21030577, 22422540, 23301036, 25317625, 25366522, 28893421
Nephrolithiasis	Associate	28893421
Nystagmus Pathologic	Associate	23301036
Paralyses Familial Periodic	Associate	21030577
Pigmentation Disorders	Associate	33591357
Renal Insufficiency	Associate	30305086
Renal Insufficiency Chronic	Associate	23301036
Strabismus	Associate	25366522
Vision Disorders	Associate	23301036

CLDN19 (claudin 19)